Genomic and Environmental Determinants of Infant Deaths in San Diego County in 2015-2022

项目摘要 婴儿死亡率每年在全球范围内进行跟踪。对婴儿死亡原因的了解影响公共卫生 在监测、干预和医学研究方面进行投资时，制定政策并优先考虑疾病。因此，在本发明中， 在过去50年中，许多婴儿死亡原因的比率已大幅下降。拟议 一个研究小组开创了一种新的方法，以减少与14000名儿童相关的婴儿发病率和死亡率。 遗传疾病，称为基因组医学：在它，基因组测序可以提供遗传疾病的诊断， 只有19个小时重症婴儿的早期遗传病诊断允许经验性初始治疗， 取而代之的是针对这种情况的具体循证治疗。在对681名重病儿童进行的9项研究中， 基因组测序诊断31%，21%在治疗中有相应的变化，13%在治疗中有变化。 结果。因此，基因组医学在重病婴儿中得到了广泛的接受。但对于 最大限度地降低婴儿发病率和死亡率的基因组医学， 因此，关键是要在其他疾病的背景下确定婴儿死亡的主要遗传原因。 环境因素我们建议使用基因组测序和半自动解释来识别 2015年至2022年期间，圣地亚哥县1,000名婴儿死亡与遗传疾病有关， 评估环境对这些婴儿死亡的潜在影响。我们将确定潜在的 通过确定与特定遗传疾病有关的死亡， 已知有针对性的干预措施可降低死亡率。这些新知识将使决策者， 研究人员和临床医生优先考虑这些疾病，投资于新的拯救生命的干预措施， 治疗。

Project Summary Infant mortality is tracked annually worldwide. Knowledge of causes of infant mortality shapes public health policy and prioritizes diseases for investments in surveillance, intervention and medical research. As a result, rates of many causes of infant mortality have declined significantly over the past 50 years. The proposed research team has pioneered a new way to decrease infant morbidity and mortality associated with 14,000 genetic diseases, called genomic medicine: In it, genome sequencing can provide a genetic disease diagnosis in as little as 19 hours. Early genetic disease diagnosis in seriously ill infants allows empiric initial treatment to be replaced with specific evidence-based treatment for that condition. In 9 studies of 681 seriously ill children, genomic sequencing diagnosed 31%, 21% had consequent changes in treatment, and 13% had changes in outcome. As a result, genomic medicine is gaining broad acceptance in seriously ill infants. However, for genomic medicine to decrease infant morbidity and mortality maximally and to anticipate the value of genetic diagnoses, it is critical to determine the leading genetic causes of infant mortality in the context of other environmental factors. We propose to use genome sequencing and semi-automated interpretation to identify genetic diseases associated with 1,000 infant deaths in San Diego County between 2015 and 2022 and to evaluate potential environmental contributions to those same infant deaths. We will identify potentially preventable infant deaths by determining those deaths associated with specific genetic diseases for which targeted interventions are known to reduce mortality. This new knowledge will enable policymakers, researchers, and clinicians to prioritize those diseases for investments in new, life-saving interventions and treatments.